NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)
|
rs12623957
|
0.72397
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)
|
rs216311
|
0.71493
|
NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61317
|
NM_000552.5(VWF):c.1451A>G (p.His484Arg)
|
rs1800378
|
0.51348
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
NM_174936.4(PCSK9):c.658-7C>T
|
rs2483205
|
0.45035
|
NM_000552.5(VWF):c.1548T>C (p.Tyr516=)
|
rs1800379
|
0.41956
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)
|
rs1063856
|
0.40814
|
NM_000552.5(VWF):c.2385T>C (p.Tyr795=)
|
rs1063857
|
0.40791
|
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)
|
rs11528010
|
0.40719
|
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)
|
rs767455
|
0.39963
|
NM_000243.3(MEFV):c.1760-30T>A
|
rs1231123
|
0.39404
|
NM_001065.4(TNFRSF1A):c.625+10A>G
|
rs1800693
|
0.38055
|
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)
|
rs2301629
|
0.34968
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln)
|
rs2286963
|
0.27207
|
NM_177438.3(DICER1):c.1907+105C>T
|
rs2275182
|
0.22841
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
NM_000179.3(MSH6):c.260+22C>G
|
rs55927047
|
0.13136
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
|
rs8192690
|
0.05059
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)
|
rs2066844
|
0.02936
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_001148.6(ANK2):c.3796+18G>A
|
rs66792339
|
0.02360
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro)
|
rs372125621
|
0.02081
|
NM_016938.5(EFEMP2):c.-113C>T
|
rs188624478
|
0.02060
|
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)
|
rs114082868
|
0.02057
|
NM_001365951.3(KIF1B):c.2115+6753A>G
|
rs41274462
|
0.01960
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)
|
rs61746201
|
0.01772
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)
|
rs118191062
|
0.01583
|
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)
|
rs8192556
|
0.01580
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)
|
rs34589386
|
0.01503
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)
|
rs118174674
|
0.01368
|
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)
|
rs73302197
|
0.01361
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)
|
rs34230288
|
0.01330
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_006883.2(SHOX):c.653G>A (p.Arg218His)
|
rs193072890
|
0.01306
|
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)
|
rs33978901
|
0.01237
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_001377.3(DYNC2H1):c.195+7T>C
|
rs112718117
|
0.01205
|
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser)
|
rs143316414
|
0.01192
|
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_004006.3(DMD):c.31+36949C>T
|
rs182597890
|
0.01020
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
NM_033100.4(CDHR1):c.240C>T (p.Val80=)
|
rs11593005
|
0.00943
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)
|
rs114583297
|
0.00817
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser)
|
rs78302129
|
0.00774
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp)
|
rs75645183
|
0.00739
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)
|
rs77612903
|
0.00681
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_032601.4(MCEE):c.102C>G (p.Pro34=)
|
rs146573280
|
0.00646
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_139125.4(MASP1):c.1090+2877G>A
|
rs113938200
|
0.00638
|
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)
|
rs61737514
|
0.00612
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)
|
rs78741041
|
0.00588
|
NM_000112.4(SLC26A2):c.*330G>T
|
rs191884433
|
0.00587
|
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512
|
0.00587
|
NM_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)
|
rs78599571
|
0.00555
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)
|
rs147376000
|
0.00541
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089
|
0.00511
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=)
|
rs181591912
|
0.00482
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)
|
rs149637884
|
0.00473
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=)
|
rs59933498
|
0.00463
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=)
|
rs182293382
|
0.00413
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
NM_002439.5(MSH3):c.2254-19T>G
|
rs41562717
|
0.00405
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_001134363.3(RBM20):c.3452-10C>T
|
rs60618533
|
0.00369
|
NM_002234.4(KCNA5):c.570C>T (p.Asn190=)
|
rs12720444
|
0.00368
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)
|
rs142881106
|
0.00365
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu)
|
rs201352230
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_012092.4(ICOS):c.58+9T>G
|
rs140049646
|
0.00348
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)
|
rs202082545
|
0.00344
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
NM_014249.4(NR2E3):c.349+8G>A
|
rs112520386
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)
|
rs187956469
|
0.00341
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)
|
rs61731652
|
0.00334
|
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp)
|
rs138019311
|
0.00333
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_001355436.2(SPTB):c.345T>C (p.Asn115=)
|
rs17180518
|
0.00330
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
NM_001365951.3(KIF1B):c.2115+7031T>C
|
rs149267056
|
0.00320
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_000518.4(HBB):c.-133G>A
|
rs72561473
|
0.00312
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_000384.3(APOB):c.8353A>C (p.Asn2785His)
|
rs2163204
|
0.00306
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_016239.4(MYO15A):c.4779+9G>A
|
rs183256997
|
0.00264
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)
|
rs146630359
|
0.00260
|
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=)
|
rs373828157
|
0.00260
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)
|
rs147106995
|
0.00240
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_145309.6(LRRC51):c.255C>T (p.Asp85=)
|
rs145851613
|
0.00232
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00228
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)
|
rs17838192
|
0.00198
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)
|
rs141835897
|
0.00171
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_001114134.2(EPB42):c.430+12C>T
|
rs185794093
|
0.00155
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met)
|
rs140140417
|
0.00139
|
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)
|
rs143789597
|
0.00135
|
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=)
|
rs150968094
|
0.00133
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
NM_004333.6(BRAF):c.1433-19A>G
|
rs369635503
|
0.00114
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_001355436.2(SPTB):c.204G>A (p.Leu68=)
|
rs145077630
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_173495.3(PTCHD1):c.1311T>C (p.His437=)
|
rs150186077
|
0.00099
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
NM_002439.5(MSH3):c.1453+15T>C
|
rs200717987
|
0.00096
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=)
|
rs73273601
|
0.00093
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)
|
rs3758442
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)
|
rs79832792
|
0.00057
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_000018.4(ACADVL):c.63-35G>A
|
rs774905326
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)
|
rs146561732
|
0.00051
|
NM_001379610.1(SPINK1):c.-22C>T
|
rs190219062
|
0.00051
|
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=)
|
rs201575114
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_002529.4(NTRK1):c.1252-15C>G
|
rs186649954
|
0.00049
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_001355436.2(SPTB):c.96T>C (p.Asn32=)
|
rs141340359
|
0.00034
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)
|
rs780953179
|
0.00028
|
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)
|
rs145775351
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_001267550.2(TTN):c.14424G>C (p.Val4808=)
|
rs374479775
|
0.00019
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
NM_004006.3(DMD):c.3419A>G (p.His1140Arg)
|
rs201297190
|
0.00003
|
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)
|
rs544565016
|
0.00003
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=)
|
rs1324926264
|
0.00002
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000092.5(COL4A4):c.736-4del
|
rs750699545
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
|
|
|
NM_000436.4(OXCT1):c.79-11del
|
rs748715820
|
|
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)
|
rs281860607
|
|
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC
|
rs1596570272
|
|
NM_000518.4(HBB):c.-92C>G
|
rs397515291
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)
|
rs34726542
|
|
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)
|
rs63749927
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001127671.2(LIFR):c.143-37GT[11]
|
rs10637374
|
|
NM_001127671.2(LIFR):c.143-37GT[13]
|
rs10637374
|
|
NM_001142800.2(EYS):c.6079-24TC[8]
|
rs35395170
|
|
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG
|
rs1904465031
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)
|
rs10594016
|
|
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)
|
rs10594016
|
|
NM_001244008.2(KIF1A):c.865-24CT[2]
|
rs140674901
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=)
|
rs886050626
|
|
NM_001355436.2(SPTB):c.6270-8_6270-6dup
|
rs528966701
|
|
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)
|
rs35088381
|
|
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
|
rs5746244
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)
|
rs368802003
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)
|
rs61754640
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
NM_021922.3(FANCE):c.387A>C (p.Pro129=)
|
rs4713867
|
|
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)
|
rs104895570
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
|